Obtaining a rapid, expert opinion on muscle biopsy specimens for neuromuscular disease
Test Id | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
IHPCI | IHC Initial | No, (Bill Only) | No |
IHPCA | IHC Additional | No, (Bill Only) | No |
IFPCI | IF Initial | No, (Bill Only) | No |
IFPCA | IF Additional | No, (Bill Only) | No |
SS2PC | SpecStain, Grp II, other | No, (Bill Only) | No |
SS3PC | SpecStain, Grp III, enzyme | No, (Bill Only) | No |
HCFPC | SpecStain, frozen | No, (Bill Only) | No |
COSPC | Consult, Outside Slide | No, (Bill Only) | No |
CSPPC | Consult, w/Slide Prep | No, (Bill Only) | No |
CUPPC | Consult, w/USS Prof | No, (Bill Only) | No |
CRHPC | Consult, w/Comp Rvw of His | No, (Bill Only) | No |
LV4RP | Level 4 Gross and Microscopic, RB | No, (Bill Only) | No |
A battery of enzyme histochemical stains will be performed on frozen tissue; additional histochemical stains or immunostains may be performed on frozen tissue; other tests can be performed as indicated and will be charged separately. The reviewing neuromuscular pathologist will determine the need for additional testing.
For all consultations, ancillary testing necessary to determine a diagnosis is ordered at the discretion of the Mayo Clinic neuromuscular pathologist. An interpretation, which includes an evaluation of the specimen and determination of a diagnosis, will be provided within a formal pathology report.
Frozen tissue sent for consultation: Appropriate additional stains may be performed at an additional charge.
Slides sent for consultation: Special stains and studies performed on the case should be sent with the case for review. In order to determine an accurate diagnosis, some of these stains or studies may be deemed to warrant repeat testing at an additional charge at the discretion of the reviewing Mayo Clinic neuromuscular pathologist. The interpreting neuromuscular pathologist may also request frozen tissue to perform additional studies that may be considered necessary for diagnosis.
Note: Testing requested by the referring physician (immunostains, etc) may not be performed if deemed unnecessary by the reviewing Mayo neuromuscular pathologist. Electron microscopic studies are not performed on muscle biopsy specimens. For more information see Why Electron Microscopy is Not Performed on Muscle Biopsy Specimens in Special Instructions.
See Pathology Consultation Ordering Algorithm in Special Instructions.
Muscle Biopsy Surgical Pathology Consultation and/or Review of Outside Material
Muscle Biopsy, Enzyme Histochemistry
Muscle Tissue
Skeletal Muscle Tissue
A battery of enzyme histochemical stains will be performed on frozen tissue; additional histochemical stains or immunostains may be performed on frozen tissue; other tests can be performed as indicated and will be charged separately. The reviewing neuromuscular pathologist will determine the need for additional testing.
For all consultations, ancillary testing necessary to determine a diagnosis is ordered at the discretion of the Mayo Clinic neuromuscular pathologist. An interpretation, which includes an evaluation of the specimen and determination of a diagnosis, will be provided within a formal pathology report.
Frozen tissue sent for consultation: Appropriate additional stains may be performed at an additional charge.
Slides sent for consultation: Special stains and studies performed on the case should be sent with the case for review. In order to determine an accurate diagnosis, some of these stains or studies may be deemed to warrant repeat testing at an additional charge at the discretion of the reviewing Mayo Clinic neuromuscular pathologist. The interpreting neuromuscular pathologist may also request frozen tissue to perform additional studies that may be considered necessary for diagnosis.
Note: Testing requested by the referring physician (immunostains, etc) may not be performed if deemed unnecessary by the reviewing Mayo neuromuscular pathologist. Electron microscopic studies are not performed on muscle biopsy specimens. For more information see Why Electron Microscopy is Not Performed on Muscle Biopsy Specimens in Special Instructions.
See Pathology Consultation Ordering Algorithm in Special Instructions.
Varies
This test is not appropriate for inhalation-transmission diseases such as tuberculosis, Brucella, measles, and varicella zoster. This test is also not appropriate for suspected Creutzfeldt-Jacobs Disease (CJD).
Biopsies from different sites require separate orders and separate specimen vials.
Biopsies from different sites require separate orders and separate specimen vials.
Preferred: Frozen muscle biopsy tissue
Supplies: Muscle Biopsy Kit (T541)
Specimen Type: Muscle biopsy tissue (frozen) and/or slides
1. Prepare and transport specimen per instructions in Muscle Biopsy Specimen Preparation in Special Instructions.
2. Patient history and requests should be clearly labeled with correct patient identifiers and pathology accession/case number.
3. All specimens must be labeled with specimen type.
Additional Information: Contact the Mayo Clinic Muscle Laboratory for special problems to maximize benefit of the muscle biopsy.
Acceptable: Stained muscle biopsy slides
1. Submit all stains performed on the case.
2. All specimens must be labeled with specimen type.
1. Muscle Histochemistry Patient Information (T361) is required, see Special Instructions.
2. Why Electron Microscopy is Not Performed on Muscle Biopsy Specimens in Special Instructions.
1.5 cm biopsy
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Frozen (preferred) | ||
Ambient |
Obtaining a rapid, expert opinion on muscle biopsy specimens for neuromuscular disease
A battery of enzyme histochemical stains will be performed on frozen tissue; additional histochemical stains or immunostains may be performed on frozen tissue; other tests can be performed as indicated and will be charged separately. The reviewing neuromuscular pathologist will determine the need for additional testing.
For all consultations, ancillary testing necessary to determine a diagnosis is ordered at the discretion of the Mayo Clinic neuromuscular pathologist. An interpretation, which includes an evaluation of the specimen and determination of a diagnosis, will be provided within a formal pathology report.
Frozen tissue sent for consultation: Appropriate additional stains may be performed at an additional charge.
Slides sent for consultation: Special stains and studies performed on the case should be sent with the case for review. In order to determine an accurate diagnosis, some of these stains or studies may be deemed to warrant repeat testing at an additional charge at the discretion of the reviewing Mayo Clinic neuromuscular pathologist. The interpreting neuromuscular pathologist may also request frozen tissue to perform additional studies that may be considered necessary for diagnosis.
Note: Testing requested by the referring physician (immunostains, etc) may not be performed if deemed unnecessary by the reviewing Mayo neuromuscular pathologist. Electron microscopic studies are not performed on muscle biopsy specimens. For more information see Why Electron Microscopy is Not Performed on Muscle Biopsy Specimens in Special Instructions.
See Pathology Consultation Ordering Algorithm in Special Instructions.
This consultative practice strives to bring the client the highest quality of diagnostic neuromuscular pathology, aiming to utilize only those ancillary tests that support the diagnosis in a cost-effective manner, and to provide a rapid turnaround time for diagnostic results.
An interpretive report will be provided.
Results are reported in a formal neuromuscular pathology report that includes diagnosis and an interpretive comment, if necessary. The formal pathology report is faxed or sent by mail according to the preference of the referring institution.
Be aware that poor freezing and improper handling of the muscle tissue may hinder the neuromuscular pathologist's interpretation of the biopsy. It is crucial to provide a properly handled muscle specimen. In this regard, see directions for Muscle Biopsy Specimen Preparation sheet in Special Instructions. A shipping kit is available, Muscle Biopsy Kit (T541) and is recommended for collecting and shipping muscle specimens. It includes a container for the tissue, collection instructions, the Muscle Histochemistry Patient Information sheet, and a box to ship the specimen.
1. Engel AG: The muscle biopsy. In: Engel AG, Franzini-Armstrong C, eds. Myology. 3rd ed. McGraw-Hill; 2004:681-690
2. Liewluck T, Sorenson EJ, Walkiewicz MA, Rumilla KM, Milone M: Autosomal dominant distal myopathy due to a novel ACTA1 mutation. Neuromuscul Disord. 2017 Aug;27(8):742-746
3. Engel AG, Redhage KR, Tester DJ, Ackerman MJ, Selcen D: Congenital myopathy associated with the triadin knockout syndrome. Neurology. 2017 Mar 21;88(12):1153-1156
4. Niu Z, Pontifex CS, Berini S, et al: Myopathy with SQSTM1 and TIA1 variants: Clinical and pathological features. Front Neurol. 2018 Mar 19;9:147
5. Nicolau S, Liewluck T, Shen XM, Selcen D, Engel AG, Milone M: A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission. Neuromuscul Disord. 2019 Aug;29(8):614-617
6. Nicolau S, Liewluck T, Tracy JA, Laughlin RS, Milone M: Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls. Neurol Genet. 2019 Jun 4;5(4):e341
7. Liewluck T, Niu Z, Moore SA, Alsharabati M, Milone M: ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles. Neuromuscul Disord. 2019 May;29(5):388-391
8. Nicolau S, Liewluck T, Elliott JL, Engel AG, Milone M: A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy. Neuromuscul Disord. 2020 Mar;30(3):236-240
All requests will be processed as a consultation case first. Special studies will be performed only if deemed to be diagnostically indicated. Histochemical and immunohistochemical stains are only performed if frozen muscle biopsy tissue is provided.(Unpublished Mayo method)
Monday through Friday
This test has been cleared, approved, or is exempt by the US Food and Drug Administration and is used per manufacturer's instructions. Performance characteristics were verified by Mayo Clinic in a manner consistent with CLIA requirements.
88342 (if appropriate)
88341 (if appropriate)
88346 (if appropriate)
88350 (if appropriate)
88305 (if appropriate)
88313 (if appropriate)
88319 (if appropriate)
88314 (if appropriate)
88321 (if appropriate)
88323 (if appropriate)
88323-26 (if appropriate)
88325 (if appropriate)
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
MBX | Muscle Path Consult | 60570-9 |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
601767 | Interpretation | 59465-5 |
601769 | Participated in the Interpretation | No LOINC Needed |
601770 | Report electronically signed by | 19139-5 |
601771 | Addendum | 35265-8 |
601773 | Gross Description | 22634-0 |
601822 | Case Number | 80398-1 |
601911 | Disclaimer | 62364-5 |
603614 | Material Received | 81178-6 |